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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Research Article
    Taichi Itoh*
    Background: Point-of-care ultrasound (POCUS) training in pediatrics varies greatly. The instructional-video training with the advancing technology of portable ultrasound machine is a novel method of POCUS training. Objective: We sought to investigate an effective, time-efficient method of POCUS training for pediatric hip effusion assessment; traditional in-person training (IPT) versus instructional-video training (IVT).
    Methods: The study enrolled participants with no prior POCUS experience/training on hip effusion assessment. They were randomized to the IPT group or the IVT group. For the IPT group, a hands-on training session was provided with a skill assessment at the end of the session. As an efficacy measure of the training method, each participants ultrasound skill was classified into poor, good, or expert. For the IVT group, each participant was provided with an instructional video and a portable ultrasound machine for 5 days. The identical skill assessment was performed upon completion. Each participant logged the amount of time spent for the training.
    Results: The study enrolled 12 participants. For the IPT group, all participants were trained in one of two group training sessions taking 80 minutes and 75 minutes, respectively. For the IVT group, the total time spent ranged from 30 minutes to 120 minutes with the average time of 71 minutes. All 6 participants from each group achieved expert level for the POCUS skill.
    Conclusions: The study revealed that the instructional-video training with a portable ultrasound machine was as effective and time-efficient as the traditional in-person training but was less resource intensive.
    Clinical Image
    Yasmin Islam, Jennifer Jane Schoch, Israel David Andrews*
    A fifteen-year-old male presented with a purpuric rash of one-week duration. The rash began on his abdomen and spread to his extremities within two days. The patient received a course of prednisone; however, the rash progressed. He denied any recent medication changes, vaccinations, or arthropod exposure. Physical exam was significant for 3-5 mm monomorphic non-blanching purpuric papules on his abdomen, groin, and buttocks, with fewer lesions on his trunk and extremities (Figures 1, 2).
    Case Report
    Aanchal Sharma, ElenyRomanos-Sirakis, and Richard Sidlow*
    Pancreatic atrophy is most commonly a consequence of cystic fibrosis, recurrent pancreatitis, or of anatomic variation of the organ. Recently, cases of pancreatic atrophy associated with inflammatory bowel disease have been reported, with the question of which entity being a precedent of the other remaining unanswered. We present a case of pancreatic atrophy/ insufficiencies incidentally detected in a patient ultimately diagnosed with Crohns disease and review the literature of the association between these two entities.
    Case Series
    Erinn O. Schmit*, Claudette Poole, Franco Diaz, and Cecelia Hutto
    Group C and G streptococci, classified as Streptococcus dysgalactiae subsp. equisimilis(SDSE), are an unusual cause of sepsis in pediatric patients. SDSE have a similar pathogenicity to Streptococcus pyogenes, and can cause pharyngitis and skin and soft-tissue infections. Rarely, these organisms cause invasive disease including osteoarticular infections, bacteremia, and meningitis. In this report, we present two pediatric patients who were diagnosed with sepsis secondary to infection with group C and G streptococcus. Both were treated with penicillin G and recovered from the infection.
    Research Article
    Oheneba Boachie-Adjei* and KwadwoYankey
    Introduction: Children with severe kyphosis are prone to developing neurologic compromise, poor respiratory function and possible early death. Early identification and surgical intervention has proven to be effective. However they carry the highest surgical risk of all the spine deformities.
    Objectives: To present the surgical results and complications of patients with severe kyphosis treated at the Foundation of Orthopedic and complex Spine (FOCOS) orthopedic hospital in Ghana with a combination of prolonged Halo gravity traction, Vertebral Column resection (VCR) and spinal stabilization.
    Methods: A consecutive series of 20 consecutive pediatric patients with severe kyphotic deformities were treated with Halo gravity traction and Vertebral column resection at a single center. We gathered the following demographic and clinical data: age, gender, BMI, diagnosis, procedure, Intraoperative monitoring (IOM) events, post operative complications.
    Results: 2 groups of 20 patients, 7 Early onset patients under 10 years with congenital kyphosis < 180 degrees (Group 1 N=7) and 13 adolescents patients with Kyphosis exceeding 180 degrees (Group 2 N=13). All the patients were treated with VCR. Group 1 averageage 7.7 +/- 3 years; BMI 17.7 +/- 2.8). Kyphosis averaged 85 degrees (70-150) and improved to 41 post op.(30-100). 50% (n=7) had intra-operative monitoring (IOM) changes that improved with corrective maneuvers and blood pressure elevation. 3 out of 5 patients with proximal junctional kyphosis (PJK) required a re-operation, one of whom also had additional procedure for infection.
    Group 2 patients included Congenita-11patients and Neurofibromatosis -2 patients. Average age: 17.8years; Sagittal deformity average 211deg and corrected to 53deg (74% correction). Intra-op spinal cord monitoring alerts occurred in 8 patients and post operative neurologic deficits occurred in 5 patients (1 permanent paraplegia) and 1 Post op mortality.
    Conclusions: Severe kyphosis ofcongenital or Neurofibromatosis in early onset or adolescents patients can be safely treated with vertebral column resection. Prolonged Halo gravity traction is helpful to obtain partial deformity correction prior to definitive surgery. Surgery provides excellent outcomes but with a high complication rate. Half of these cases had some neuro-monitoring changes that ultimately improved without lasting neurologic deficit. Proximal junctional kyphosiswas the most common complication requiring reoperation among the early onset group of patients.
    Chang Chia-Hui, Shuju Lee, Huahui Chiou, and Ishien Li*
    The results of this study indicate the critical role of parents' emotion-related beliefs in toddlers' development of effortful control (EC). We assessed EC and negative affectivity characteristics of 94 Taiwanese children through their parents' reports on the scales of the Early Childhood Behavior Questionnaire at two different points in time: at 24 and 30 months of age. When the children were 24 months old, we also assessed their parents' emotion-related beliefs through the Parent's Beliefs about Children's Emotions (PBACE) questionnaire. The PBACE predicted the change in EC six months later, controlled for the children's EC and negative affects at 24 months old. Three different aspects of PBACE significantly predicted the development in EC: parental beliefs about the value of /acceptance of children's negative emotions, manipulative nature of the emotions of children, and autonomy of children's emotions (non-supportive meta-emotions). While parental beliefs about the manipulative nature and autonomy of children's emotions decreased the growth of EC, valuing and/or accepting children's negative emotions positively predicted an increase in EC. In seeking to promote young children's development of EC, it is important for parental and care giving educators to point out the importance of supportive emotion-related beliefs, whereas non-supportive meta-emotions may hinder the growth of emotion regulatory capability in early childhood.
    Case Report
    Erica L. McGrath and Ping Wu*
    Zika virus is a flavivirus known to cause microcephaly during development. The mechanism underlying Zika virus-induced neuropathogenesis is still poorly understood. Recent studies have utilized the cutting edge cell culture and animal model technologies to elucidate factors contributing to Zika virus-associated microcephaly. While future work is needed, current studies have suggested three main factors that contribute to Zika virus pathology: viral lineage, host immunity, and pregnancy stages. This mini review will focus on some of the recent findings that advanced our knowledge in Zika virus-associated microcephaly.
    Teddy Ajero* and Daniel Tuckey
    The following case report illustrates the significance of patient history and always having a broad differential diagnosis. A four-year-old boy presented in our clinic with the solitary symptom of intermittent shoulder spasms. The patient's mother described frequent episodes of twitching lasting twenty to thirty seconds and occurring ten times per day, which concerned her for a possible tic disorder. During his examination, the patient had a single episode of the reported dystonia, which was felt to be choreoathetoid in nature. We were suspicious of an atypical presentation of acute rheumatic fever (ARF), and subsequent laboratory findings revealed a mildly elevated Anti-streptolys in O Antibody (ASO) titer. Focused history-taking uncovered that the patient had a febrile illness and a self-limiting rash one month prior to his presentation for which he did not seek care. After consultation with a pediatric infectious disease specialist, Group A Beta-Hemolytic Streptococcus (GABHS) prophylaxis was started, and he was referred to cardiology. His cardiologist performed an echocardiogram which demonstrated mild mitral regurgitation that was felt to be highly unusual for a child his age. He was diagnosed by his cardiologist with mitral valvulitis, and it was recommended that he continue Bicillin intramuscular injections for Streptococcal prophylaxis. The ultimate outcome of this case was the diagnosis of ARF in a patient whose only presentation was Sydenham's chorea. The main take-away from this case was the importance of always considering ARF in a patient who presents with only chorea as his or her primary symptom.
    Oheneba Boachie-Adjei*, Rufai M. Mahmud, and KwadwoYankey
    Introduction: Tuberculosis of the spine and its sequelae constitute a major burden on healthcare systems in the developing world and requires meticulous attention to detail, the appropriate surgical skill and good perioperative support systems to optimize surgical outcomes
    Objectives: To highlight the peculiar challenges associated with managing complex spine deformities arising from post TB infection in the developing world.
    Methodology: A comprehensive review of three pediatric patients with severe post TB kyphosis treated with Posterior vertebral column resection (VCR), fusion and instrumentation. Posterior VCR involves complete resection of a vertebra undertaken from a posterior approach. In the thoracic spine it involves a costo transversectomy, careful dissection of lateral and anterior margins of vertebral body, resection of body of vertebra while providing support for the spinal cord with rods placed across it in pedicle screws. This is followed by laminectomy. The opposing cartilaginous endplates of the vertebral bodies above and below resected vertebra is excised. A structural graft is then placed anterior to the spinal cord. A description of the presentation and treatment protocol was outlined.
    Results: The kyphotic deformities were first subjected to Halo gravity traction in an attempt to decrease the deformity while improving the nutritional status in one severely malnourished patient. A post-operative infection occurred in one patient requiring revision surgery. A second patient had persistent psoas abscess which required a second operation with anterior drainage, debridement and fusion. All three patients have had excellent recovery with fusion two years post op.
    Conclusion: Post TB kyphosis is a common sequela of Tuberculosis of the spine which can lead to paralysis. Surgical intervention requires a complex resection and fusion which can be successfully achieved in the properly selected patient.
    Case Report
    Kamel Shibbani, Ramzi Hamzeh, and Rana Sharara-Chami*
    As the Syrian conflict rages on, more and more innocent civilians are fleeing their homes in pursuit of safety. The numbers of Syrians refugees that have left their country encroaches on 5 million, more than a quarter of them in Lebanon. These families, and by extension their children, live in suboptimal conditions in Lebanon, as there are no formal refugee camps. Refugee status increases the risk of development of psychological and organic disorders. Our manuscript sheds light on the grim situation of Syrian families and children in Lebanon through a case of Munchausen Syndrome By proxy in a Syrian refugee family.
    Gena Schubert*, Gabrielle Karpinsky, Zhihong Wang, and Chaya Pitman-Hunt
    We report a rare case of neuroblastoma with Opsoclonus Myoclonus Ataxia (OMA) and Horners syndrome in a previously healthy 17-month-old female who presented with titubations and a wide based gait. The patient had an initial negative workup including urine catecholamines. After further investigation, including a Magnetic Resonance Imaging (MRI) of the spine, neuroblastoma was revealed. This case emphasizes the importance of having a high suspicion for neuroblastoma despite negative urine catecholamine metabolites, especially when associated with OMA and Horners syndrome. Prompt treatment along with consultation with oncology is imperative to improve survival outcomes.
    Research Article
    Elizabeth A. Jimenez*, Virginia F. Wright, Jessica Brian, Michelle Shouldice, Michelle Gordon, Sarah Barker, Nicky Jones-Stokreef, Janine Flanagan, Lisa Feitelberg, Suzanne Stead, Pamela Green, Rachel Barber, and Wendy S. Roberts
    Existing direct diagnostic tools for ASD tend not to be practical for use by most community paediatricians. We examined the potential of using selected activities modified from the Autism Diagnostic Observation Schedule (ADOS) to inform diagnostic decision-making.
    Objectives: We evaluated the use of a unique, specially designed observation form and scoring guide (Pediatric Autism Early Diagnosis Tool; PAED), and then compared the diagnostic results with the validated ADOS Module 1. Completing a diagnostic assessment using this new method does not involve the complex scoring normally required with the ADOS, thus making it much more accessible for pediatricians to learn.
    Methods: Twenty-eight pre-verbal children (mean age 33.6 months; SD=9.5m) referred to community clinics were assessed on the abbreviated process/PAED Tool and on the standard ADOS on separate visits. Both diagnostic methods included a detailed developmental history for ASD. A DSM-IV-TR diagnostic category was assigned for each approach. Videotaped sessions were scored by independent raters for PAED Tool reliability.
    Results: PAED Tool inter-rater reliability was excellent using a video-scoring approach (ICC=0.86). Classification agreement between evaluation methods was excellent (weighted kappa=0.83), and sensitivity and specificity were both high (91%-100%).
    Conclusions: When used with a detailed history and physical examination, the abbreviated battery and PAED Tool yielded good diagnostic accuracy. Further trials will involve DSM-5 modifications.
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